Biotinidase Deficiency

Biotinidase

Multiple Carboxylase Deficiency

Amidohydrolases

Biotin

Dermatitis, Seborrheic

Encyclopedias as Topic

Neurocutaneous Syndromes

Biotinidase deficiency

Delayed milestone

List of OMIM disorder codes

Multiple carboxylase deficiency

Biotin deficiency

Dog coat

Biotinidase

Newborn screening

Newborn Screening Saves Lives Reauthorization Act of 2013

Holocarboxylase synthetase deficiency

Biotin

Biocytin

3-Methylcrotonyl-CoA carboxylase deficiency

Andrea Superti-Furga

Lactic acidosis

Chromosome 3

Medical genetics

Congenital disorders of amino acid metabolism

List of diseases (B)

Hair loss

Causes of autism

List of ICD-9 codes 240-279: endocrine, nutritional and metabolic diseases, and immunity disorders

List of MeSH codes (C18)

List of MeSH codes (C16)

List of disorders included in newborn screening programs

Propionic acidemia

Presenting as rev1

• Complete biotinidase deficiency presenting as reversible progressive ataxia and sensorineural deafness. (medscape.com)

Profound15

• The more severe form of the disorder is called 'profound Biotinidase deficiency' and may cause delayed development, seizures, weak muscle tone (hypotonia), breathing problems, hearing and vision loss, problems with movement and balance (ataxia), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis. (nih.gov)
• Furthermore, in rare cases, even individuals with profound deficiencies of biotinidase can be asymptomatic. (wikipedia.org)
• Profound biotinidase deficiency refers to situations where enzyme activity is 10% or less. (wikipedia.org)
• Profound biotinidase deficiency results when the activity of biotinidase is reduced to less than 10 percent of normal. (medlineplus.gov)
• Serum and cerebrospinal fluid studies remained unremarkable, but profound biotinidase enzyme activity deficiency was identified, as were three mutations in the BTD gene. (medscape.com)
• Chedrawi AK, Ali A, Al Hassnan ZN, Faiyaz-Ul-Haque M, Wolf B. Profound biotinidase deficiency in a child with predominantly spinal cord disease. (medscape.com)
• Increased incidence of profound biotinidase deficiency among Hispanic newborns in California. (medscape.com)
• Wolf B, Spencer R, Gleason T. Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency. (medscape.com)
• Evaluation by a clinical geneticist or metabolic specialist annually for those with profound biotinidase deficiency and every two years for those with partial biotinidase deficiency. (nih.gov)
• Deficiency can be partial or profound. (medicalhomeportal.org)
• Newborn screening data in the United States indicate that the incidence of biotinidase deficiency is about 1:67,766 for profound deficiency and 1:24,957 for partial deficiency. (medicalhomeportal.org)
• Many mutations are known to cause profound deficiency, but a single mutation (p.D444H) is responsible for almost all cases of partial deficiency. (medicalhomeportal.org)
• Though usually diagnosed by newborn screening, partial or profound biotinidase deficiency should be considered in any child presenting with consistent clinical and biochemical findings. (medicalhomeportal.org)
• Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening. (bvsalud.org)
• Older children and adolescents with profound biotinidase deficiency often exhibit motor limb weakness, spastic paresis, and decreased visual acuity. (beds.ac.uk)

Autosomal7

• Biotinidase deficiency is caused by genetic changes in the BTD gene and is inherited in an autosomal recessive manner. (nih.gov)
• Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from proteins in the diet during digestion or from normal protein turnover in the cell. (wikipedia.org)
• Biotinidase deficiency is inherited in an autosomal recessive pattern, which means the defective gene is located on an autosome, and two copies of the defective gene - one from each parent - must be inherited for a person to be affected by the disorder. (wikipedia.org)
• Biotinidase deficiency is an autosomal recessive condition. (medicalhomeportal.org)
• Biotinidase deficiency is caused by mutations in the BTD gene and inheritance is autosomal recessive. (medicalhomeportal.org)
• Biotinidase deficiency is an autosomal recessive genetic disorder which is not uncommon in the Saudi population. (who.int)
• A second healthy infant had two biotinidase deficiency ( BTD) variants, and as a result of participation in the BabySeq Project was diagnosed and treated for partial biotinidase deficiency, an autosomal recessive disorder. (cdc.gov)

Enzyme activity4

• Functionally, there is no significant difference between dietary biotin deficiency and genetic loss of biotin-related enzyme activity. (wikipedia.org)
• This biochemical analysis of biotinidase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Biotinidase Deficiency. (ggc.org)
• [ 1 ] Two of the patients had almost total deficiency of hepatic glucose-6-phosphatase, whereas the remaining 4 had normal enzyme activity. (medscape.com)
• Follow-up testing will include quantitative plasma acylcarnitine profile, serum biotinidase, urine organic acids, and enzyme activity assay in white blood cells. (medicalhomeportal.org)

Seizures8

• Biotin deficiency can result in behavioral disorders, lack of coordination, learning disabilities and seizures. (wikipedia.org)
• Pediatric neurologists are trained to think of biotinidase deficiency to be associated with seizures in infancy, normally picked up in the first few months of life," he said. (medscape.com)
• Salbert BA, Pellock JM, Wolf B. Characterization of seizures associated with biotinidase deficiency. (medscape.com)
• Symptoms including seizures, developmental delay, cutaneous manifestations (skin rash, alopecia), optic atrophy, hearing loss, and respiratory problems occur only in those individuals with biotinidase deficiency prior to biotin treatment. (nih.gov)
• 10% mean normal serum biotinidase activity) usually appear between ages one week and ten years, typically with optic atrophy, hypotonia, seizures, hair loss, and skin rash. (nih.gov)
• Newborns are especially sensitive to biotinidase deficiency, and can have irreversible vision and hearing loss and seizures, although symptoms of biotinidase deficiency may also first occur in older children. (medicalhomeportal.org)
• Secondary deficiency is clinically similar, with failure to thrive, seizures, and other organic aciduria. (merckmanuals.com)
• Specifically how some other symptoms - " seizures, weak muscle tone (hypotonia), breathing problems, hearing and vision loss, problems with movement and balance (ataxia), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis " - associated with biotinidase deficiency are not a million miles away from what has been talked about in some autism literature too (see also the comments section of another post here ). (blogspot.com)

Partial14

• The milder form is called 'partial Biotinidase deficiency' In some cases, these symptoms only appear during illness, infection, or other times of stress on the body. (nih.gov)
• Partial biotinidase deficiency is a milder form of this condition. (medlineplus.gov)
• Partial biotinidase deficiency occurs when biotinidase activity is reduced to between 10 percent and 30 percent of normal. (medlineplus.gov)
• High incidence of partial biotinidase deficiency cases in newborns of Greek origin. (medscape.com)
• Individuals with partial biotinidase deficiency (10%-30% of mean normal serum biotinidase activity) may develop symptoms only when stressed, such as during infection. (nih.gov)
• [ Wolf: 2010 ] In partial biotinidase deficiency, symptoms are usually triggered when the requirement for biotin increases (stress, infections, or fever). (medicalhomeportal.org)
• Elsewhere the investigators noted that the diagnostic test conducted following an elevated NBS result indicated that the infant did not have partial biotinidase deficiency. (cdc.gov)
• The investigators conducted a second diagnostic test using serum which, unlike the first test, indicated partial biotinidase deficiency. (cdc.gov)
• Even if that child does have partial biotinidase deficiency, it is unclear whether the child would experience adverse effects without treatment. (cdc.gov)
• One infant has been diagnosed and treated for partial biotinidase deficiency, with unknown clinical benefit. (cdc.gov)
• Individuals with partial biotinidase deficiency may have hypotonia, skin rash, and hair loss, particularly during times of stress. (beds.ac.uk)
• Ornithine transcarbamylase (OTC) deficiency can occur as a severe neonatal-onset disease in males (but rarely in females) and as a post-neonatal-onset (also known as "late-onset" or partial deficiency) disease in males and females. (beds.ac.uk)
• Males and heterozygous females with post-neonatal-onset (partial) OTC deficiency can present from infancy to later childhood, adolescence, or adulthood. (beds.ac.uk)
• A case of partial biotinidase deficiency associated with autism. (blogspot.com)

Galactosemia2

• This system is a robust, cost-efficient screening solution for seven Newborn screening disorders including congenital hypothyroidism, phenylketonuria, congenital adrenal hyperplasia, galactosemia, cystic fibrosis, biotinidase and G6PD deficiency. (usworldtoday.com)
• Galactosemia, biotinidase deficiency, cystic fibrosis, severe combined immunodeficiency or SCID, Pompe disease or glycogen storage disease type 2, mucopolysaccharidosis type 1, X-linked adrenoleukodystrophy, spinal muscular atrophy or SMA, critical congenital heart disease, and hearing loss are some of them. (byforbes.com)

Symptoms of biotinidase deficiency4

• When Do Symptoms of Biotinidase deficiency Begin? (nih.gov)
• citation needed] The symptoms of biotinidase deficiency (and dietary deficiency of biotin) can be quite severe. (wikipedia.org)
• Symptoms of biotinidase deficiency in neonates may make it difficult to differentiate holocarboxylase synthetase deficiency from biotinidase deficiency (see Pathophysiology), as patients with holocarboxylase synthetase deficiency also respond clinically well to biotin treatment. (medscape.com)
• What are the symptoms of biotinidase deficiency? (medicalhomeportal.org)

Patients with biotinidase deficiency2

• in several of the case reports of patients with biotinidase deficiency who presented with symptoms similar to NMO, the patients had been receiving immunomodulatory therapy. (medscape.com)
• The clinical history and the neuroradiological findings have been reviewed for 5 patients with biotinidase deficiency. (nih.gov)

Children with biotinidase deficiency2

• Most children with biotinidase deficiency are diagnosed by newborn screening tests. (medicalhomeportal.org)
• Although most children with biotinidase deficiency who take supplements will have no clinical or developmental problems, they may need more supplementation when physically stressed or going through puberty. (medicalhomeportal.org)

Newborn6

• Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency. (medlineplus.gov)
• Available at http://www.medicalhomeportal.org/newborn/biotinidase-deficiency . (medscape.com)
• Individuals with biotinidase deficiency who are diagnosed before they have developed symptoms (e.g., by newborn screening) and who are treated with biotin have normal development. (nih.gov)
• To confirm the diagnosis of 3MCC deficiency, work with Newborn Screening Services ( see NM providers [3] ) . (medicalhomeportal.org)
• Unfortunately, newborn screening is overlooked, which denies the opportunity for the metabolic disorder/deficiency to be corrected and for the baby to lead a normal life and transform into a healthy child and adult. (usworldtoday.com)
• Metabolic difficulties in newborn screening include phenylketonuria or PKU, methylmalonic acidemia, tyrosinemia, citrullinemia, and medium-chain acyl CoA dehydrogenase deficiency. (byforbes.com)

Newborns1

• 15. Immunophenotypic analysis of lymphocyte subsets in newborns with biotinidase deficiency. (nih.gov)

Acyl-CoA dehydroge1

• Anderson DR, Viau K, Botto LD, Pasquali M, Longo N . Clinical and biochemical outcomes of patients with medium-chain acyl-CoA dehydrogenase deficiency. (aruplab.com)

Disorders6

• Four main factors contribute to vitamin B deficiency: an unbalanced diet, excessive alcohol intake, different drugs, and disorders that induce gut malabsorption. (researchgate.net)
• Elevations in plasma homocysteine levels may be associated with homocystinuria, cobalamin disorders, and vitamin B12 or folic acid deficiencies. (ggc.org)
• ABSTRACT The national neonatal screening programme in the United Arab Emirates currently includes 16 disorders: congenital hypothyroidism, sickle-cell diseases, congenital adrenal hyperplasia, biotinidase deficiency and 12 amino acid, organic acid and fatty acid disorders. (who.int)
• The incidence of screened disorders were 1:1 873 for congenital hypothyroidism, 1:14 544 for phenylketonuria, 1:3 526 for amino acid, organic acid and fatty acid disorders, 1:9 030 for classical congenital adrenal hyperplasia, 1:8 300 for biotinidase deficiency, 1:2 384 for sickle-cell disease and 1:121 for sickle-cell traits. (who.int)
• Symptoms of biotin deficiency are thinning and loss of body hair, scaly skin rashes around the eyes, nose, and mouth, brittle nails, and nervous system disorders. (bioanalyt.com)
• These technologies enable screening/monitoring for hearing loss, metabolic disorders/deficiencies, and neonatal jaundice as well as providing appropriate treatment solutions. (usworldtoday.com)

Congenital adrenal hyp1

• The conditions for which neonatal screening has been proposed in the Indian scenario include hearing loss, congenital hypothyroidism, congenital adrenal hyperplasia (CAH), and glucose-6-phosphate dehydrogenase (G6PD) deficiency besides biotinidase deficiency and phenylketonuria. (usworldtoday.com)

Activity of biotinidase2

• Mutations in the BTD gene reduce or eliminate the activity of biotinidase. (medlineplus.gov)
• Both the amount of biotin and the activity of biotinidase can be measured in the blood. (medicalhomeportal.org)

Diagnosis4

• Correct diagnosis of biotinidase deficiency can prevent ocular and spinal disability when the disorder is identified early and treated aggressively, the authors conclude. (medscape.com)
• Biotinidase deficiency: initial clinical features and rapid diagnosis. (medscape.com)
• Technical standards and guidelines for the diagnosis of biotinidase deficiency. (medicalhomeportal.org)
• Diagnosis of pyruvate dehydrogenase deficiency is confirmed by enzyme analysis of skin fibroblasts, DNA testing, or both. (merckmanuals.com)

Metabolic4

• Biotinidase deficiency (BIO): hereditary metabolic disorder in which too little biotin (vitamin H) is produced. (pns.nl)
• HMG-CoA-lyase deficiency (HMG): hereditary metabolic disorder in which the amino acid leucine is not broken down properly, resulting in suboptimal fatty acid oxidation leading to an energy deficiency. (pns.nl)
• 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC deficiency): hereditary metabolic disorder in which certain proteins containing the amino acid leucine are not broken down sufficiently. (pns.nl)
• In 3MCC deficiency, a lack of 3-methylcrotonyl-CoA carboxylase (usually present in the liver, fibroblasts, and leukocytes) impairs the breakdown of leucine, resulting in metabolic acidosis and occasional hypoglycemia. (medicalhomeportal.org)

Incidence2

• Primary deficiency incidence is 1/250,000 births but may be higher in certain American Indian populations. (merckmanuals.com)
• The incidence of 3MCC deficiency is approximately 1:50,000. (medicalhomeportal.org)

Primary Carnitine1

• SLC22A5 sequencing is a molecular test used to identify variants in the gene associated with Primary Carnitine Deficiency, systemic. (ggc.org)

Multiple Carboxylase4

• Because several of these enzymes are impaired in biotinidase deficiency, the condition is considered a form of multiple carboxylase deficiency. (medlineplus.gov)
• Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment. (medscape.com)
• Biotin supplementation is used for preventing and managing biotin deficiency associated with pregnancy, long-term parenteral nutrition, malnutrition, and multiple carboxylase deficiency. (jarrow.com)
• The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN. (bvsalud.org)

Enzymes4

• Another function of the biotinidase enzyme is to recycle biotin from enzymes that are important in metabolism (processing of substances in cells). (wikipedia.org)
• citation needed] Individuals lacking functional biotinidase enzymes can still have normal carboxylase activity if they ingest adequate amounts of biotin. (wikipedia.org)
• Biotinidase detaches biotin from lysine and generates free biotin that can be attached to many enzymes, called carboxylases, and possibly used in other chemical reactions. (medicalhomeportal.org)
• Biotinidase is responsible for biotin recycling and biotin is an essential cofactor for activation of the carboxylase enzymes. (who.int)

Severity of the enzyme1

• In children who aren't treated, prognosis will depend on the severity of the enzyme deficiency, with children with less than 10% of normal biotin levels having the worst prognosis. (medicalhomeportal.org)

Inherited disorder in which the body1

• Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. (nih.gov)

Disorder4

• Biotinidase deficiency is a genetic disorder caused by the lack of an enzyme that processes biotin, an important cofactor in the processing of fats, carbohydrates, and protein. (medicalhomeportal.org)
• Absence of biotinidase leads to infantile or early childhood encephalopathy, seizure disorder, dermatitis, alopecia, neural deafness and optic atrophy. (who.int)
• One such condition is biotinidase deficiency , a disorder in which the body can't recycle the vitamin biotin. (healthline.com)
• For all individuals with OTC deficiency, typical neuropsychological complications include developmental delay, learning disabilities, intellectual disability, attention-deficit/hyperactivity disorder, and executive function deficits. (beds.ac.uk)

Pyruvate carboxylas1

• There is no effective treatment for pyruvate carboxylase deficiency, but some patients with primary deficiency and all those with secondary deficiencies should be given biotin supplementation 5 to 20 mg orally once a day. (merckmanuals.com)

Asymptomatic1

• Males with severe neonatal-onset OTC deficiency are asymptomatic at birth but become symptomatic from hyperammonemia in the first week of life, most often on day two to three of life, and are usually catastrophically ill by the time they come to medical attention. (beds.ac.uk)

Dehydrogenase1

• There is no clearly effective treatment for pyruvate dehydrogenase deficiency, although a low-carbohydrate or ketogenic diet and dietary thiamin supplementation have been beneficial for some patients. (merckmanuals.com)

Systemic1

• Dr. Scott's Pearl of Laboratory Medicine explores Biotinidase deficiency, a systemic enzyme defect that results in a variety of clinical features. (myadlm.org)

Vitamin6

• Without biotinidase activity, the vitamin biotin cannot be separated from foods and therefore cannot be used by the body. (wikipedia.org)
• Biotinidase removes biotin that is bound to proteins in food, leaving the vitamin in its free (unbound) state. (medlineplus.gov)
• Biotin deficiency may be caused by insufficient dietary uptake of biotin, drug-vitamin interactions and, perhaps, by increased biotin catabolism during pregnancy and in smokers. (researchgate.net)
• If these B vitamin deficiencies are left untreated, they can eventually cause symptoms such as peripheral neuropathy, heart attacks, strokes etc. (researchgate.net)
• This paper provides an in-depth summary of the most popular types of vitamin B, emphasizing why the body needs them, the symptoms of a deficiency, and what diet or foods are rich in them. (researchgate.net)
• Biotin is a vitamin, whereas biotinidase is an enzyme that allows our body to extract biotin from foods. (medicalhomeportal.org)

Supplementation4

• Once biotinidase deficiency is diagnosed, it is easy to treat with biotin supplementation, which is a very benign therapy and in most cases can override the system," Santoro noted. (medscape.com)
• Treatment is biotin supplementation depending on the level of existing biotinidase activity. (medicalhomeportal.org)
• Discussing how, within the increasingly large range of conditions that manifest autism or autistic behaviour(s), there may be one or two 'types' of autism that manifest biotin deficiency, there is a pretty obvious course of intervention as and when deficiency is found: supplementation. (blogspot.com)
• The deficiency of biotin is prevented by adequate consumption of foods rich in biotin or biotin supplementation. (bioanalyt.com)

3MCC deficiency1

• See 3MCC Deficiency - Information for Parents (STAR-G) . (medicalhomeportal.org)

Mutations2

• Mutations in the BTD gene cause biotinidase deficiency. (wikipedia.org)
• There are at least 21 different mutations that have been found to lead to biotinidase deficiency. (wikipedia.org)

Neonatal1

• Wolf B. Worldwide survey of neonatal screening for biotinidase deficiency. (medscape.com)

Malabsorption1

• Biotin deficiency is most common in people with congenital biotinidase deficiency, malabsorption (such as short-gut syndrome), pregnancy, alcoholism, and in people receiving long-term parenteral nutrition. (jarrow.com)